A person with Gaucher’s disease lacks an enzyme, or protein, known as glucocerebrosidase.

Glucocerebrosidase breaks down a type of fat, or lipid, known as glucosylceramide, or glucocerebroside, into sugar and simple fats to be used for energy.

If the lipid is not broken down, it will start to collect inside the cells of the brain, bone marrow, lungs, spleen, and liver. These organs will not be able to function properly.

The lipid can also collect in the macrophages, a type of white blood cell.

Glucocerebrosidase exists in lysosomes, sac-like structures inside the cells. Lysosomes break down unwanted substances into simpler ones, so that the cell can use them to make new material or expel them.

If the enzyme that breaks down the waste product is lacking, waste builds up in the cells.

If too much waste builds up, the cells will no longer work properly. Serious health problems can result.

There are three types of Gaucher Disease. The main signs and symptoms are an enlargement of the liver and spleen, bone disease, and a low platelet and hemoglobin count, but not everyone will have the same symptoms.

The most common sign is an enlarged spleen, called splenomegaly. This may cause no discomfort to the individual, or it may cause the abdomen to become swollen, full, or painful.

It can also cause platelet and red blood cell dysfunction, because the spleen is a processing center for these cells. Low platelet and red blood cells in the body cause fatigue, easy bruising and bleeding.

Type 1

This is the most common type. It accounts for around 9 in every 10 cases. The symptoms tend to be less severe, and the disease does not affect the brain.

The severity of symptoms and the age of onset differ between individuals. Diagnosis can occur in childhood or adulthood.

Norbottnian Gaucher’s Disease is a kind of type 3. Symptoms may not become evident until young adulthood.

Perinatal lethal Gaucher’s disease is the most severe type. Complications arise before birth or during infancy. Symptoms include extensive swelling, skin and neurological problems. It is normally fatal either before birth or a few days after.

Genetic testing looks for the four most common genetic mutations, N370S, L444P, 84gg and IVS2[+1], and some less common ones.

This test is not completely reliable because the whole range genetic mutations that may be linked with Gaucher’s disease are not yet known.

Genetic testing for these four mutations is between 90 and 95 percent accurate in diagnosing Gaucher’s disease in the Ashkenazi Jewish population, and 50 percent to 60 percent accurate in the general population.

Genetic testing before conception can predict a couple’s chances of having a child with Gaucher’s disease. Those with a family history of the condition and those of Ashkenazi Jewish descent may wish to ask about genetic counseling.

An early diagnosis and prompt treatment will improve the outlook for people with Gaucher’s.

Research published in the American Journal of Hematology suggests that the average life expectancy of a person with type 1 Gaucher’s disease is 68 years, compared with 77 years in the rest of the population.

Most patients with type 2 Gaucher’s disease will not survive beyond the first 2 years of life.

The National Gaucher Foundation says that life expectancy for type 3 Gaucher’s disease is shorter, but people with mild cases who receive treatment can live into their 50s.

Researchers hope that as they discover more about the disease, new treatments may improve the outlook for people with all forms of the disease.